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https://doi.org/10.1038/s42003-020-01421-2
Title: | Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract | Authors: | Yonova-Doing, E. Zhao, W. Igo, R.P. Wang, C. Sundaresan, P. Lee, K.E. Jun, G.R. Alves, A.C. Chai, X. Chan, A.S.Y. Lee, M.C. Fong, A. Tan, A.G. Khor, C.C. Chew, E.Y. Hysi, P.G. Fan, Q. Chua, J. Chung, J. Liao, J. Colijn, J.M. Burdon, K.P. Fritsche, L.G. Swift, M.K. Hilmy, M.H. Chee, M.L. Tedja, M. Bonnemaijer, P.W.M. Gupta, P. Tan, Q.S. Li, Z. Vithana, E.N. Ravindran, R.D. Chee, S.-P. Shi, Y. Liu, W. Su, X. Sim, X. Shen, Y. Wang, Y.X. Li, H. Tham, Y.-C. Teo, Y.Y. Aung, T. Small, K.S. Mitchell, P. Jonas, J.B. Wong, Tien Yin Fletcher, A.E. Klaver, C.C.W. Klein, B.E.K. Wang, J.J. Iyengar, S.K. Hammond, C.J. Cheng, C.-Y. |
Issue Date: | 2020 | Publisher: | Nature Research | Citation: | Yonova-Doing, E., Zhao, W., Igo, R.P., Wang, C., Sundaresan, P., Lee, K.E., Jun, G.R., Alves, A.C., Chai, X., Chan, A.S.Y., Lee, M.C., Fong, A., Tan, A.G., Khor, C.C., Chew, E.Y., Hysi, P.G., Fan, Q., Chua, J., Chung, J., Liao, J., Colijn, J.M., Burdon, K.P., Fritsche, L.G., Swift, M.K., Hilmy, M.H., Chee, M.L., Tedja, M., Bonnemaijer, P.W.M., Gupta, P., Tan, Q.S., Li, Z., Vithana, E.N., Ravindran, R.D., Chee, S.-P., Shi, Y., Liu, W., Su, X., Sim, X., Shen, Y., Wang, Y.X., Li, H., Tham, Y.-C., Teo, Y.Y., Aung, T., Small, K.S., Mitchell, P., Jonas, J.B., Wong, Tien Yin, Fletcher, A.E., Klaver, C.C.W., Klein, B.E.K., Wang, J.J., Iyengar, S.K., Hammond, C.J., Cheng, C.-Y. (2020). Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract. Communications Biology 3 (1) : 755. ScholarBank@NUS Repository. https://doi.org/10.1038/s42003-020-01421-2 | Rights: | Attribution 4.0 International | Abstract: | Nuclear cataract is the most common type of age-related cataract and a leading cause of blindness worldwide. Age-related nuclear cataract is heritable (h2 = 0.48), but little is known about specific genetic factors underlying this condition. Here we report findings from the largest to date multi-ethnic meta-analysis of genome-wide association studies (discovery cohort N = 14,151 and replication N = 5299) of the International Cataract Genetics Consortium. We confirmed the known genetic association of CRYAA (rs7278468, P = 2.8 × 10?16) with nuclear cataract and identified five new loci associated with this disease: SOX2-OT (rs9842371, P = 1.7 × 10?19), TMPRSS5 (rs4936279, P = 2.5 × 10?10), LINC01412 (rs16823886, P = 1.3 × 10?9), GLTSCR1 (rs1005911, P = 9.8 × 10?9), and COMMD1 (rs62149908, P = 1.2 × 10?8). The results suggest a strong link of age-related nuclear cataract with congenital cataract and eye development genes, and the importance of common genetic variants in maintaining crystalline lens integrity in the aging eye. © 2020, The Author(s). | Source Title: | Communications Biology | URI: | https://scholarbank.nus.edu.sg/handle/10635/199247 | ISSN: | 2399-3642 | DOI: | 10.1038/s42003-020-01421-2 | Rights: | Attribution 4.0 International |
Appears in Collections: | Elements Staff Publications |
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